Table 2 Summary of cases carrying a CNV deemed relevant to neurodevelopmental disorders CNVs stratified by the disorder and variant type

From: A large data resource of genomic copy number variation across neurodevelopmental disorders

Category

ASD (%)

ADHD (%)

OCD (%)

SCZ (%)

All cases (%)

A: aneuploidies

11 (0.6)

6 (1.4)

0

0

17 (0.63)

B: large CNVs (>3 Mb)1

16 (0.9)

4 (0.9)

0

3 (1.5)

23 (0.85)

C: genomic disorder loci2

80 (4.3)

18 (4.2)

4 (1.8)

13 (6.4)

115 (4.3)

D: de novo3

31 (6.9)

NA5

3 (1.8)

1 (NA)6

35 (5.6)

E: others4

89 (4.9)

14 (3.3)

8 (3.6)

6 (2.9)

117 (4.4)

Sum of unique samples across all categories7

209 (11.4)

40 (9.4)

13 (5.6)

22 (10.8)

284 (10.5)8

  1. 1This category included variants larger than 3 Mb but not aneuploidies or variants of known recurrent genomic disorder loci larger than 3 Mb, i.e., 15q11-13 duplication (Table 3, Supplementary Table 1C). 2Prevalence of known recurrent genomic syndromes in the general population is 0.8–1.0%. 3This category includes de novo variants from aneuploidies, large CNVs and genomic disorder loci. The rate of de novo CNVs in the general population is 0.9–1.4%43. 4This category included all other NDD relevant CNVs. 5Indicates that we did not sample parents of ADHD cases to establish inheritance pattern of variants. 6We sampled only 13 trios; most SCZ samples were unrelated. Sum of the counts in each column is higher in some cases than the total number of cases with relevant CNVs in the corresponding column, due to the fact that (i) some subjects might carry multiple relevant variants, and (ii) de novo category includes CNVs from aneuploidy, large CNVs, and the genomic disorder loci. 7Numbers of prioritized CNVs for ASD, ADHD, OCD, and SCZ were 223, 43, 17, and 23, respectively. 8Total number of prioritized CNVs across all cases was 306. The coordinates for clinically relevant CNVs are in Supplementary Table 1C
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